Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Isabelle, Perrault"'
Autor:
Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu P. Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylvain Briault, Ange-Line Bruel, Christine Costet-Fighiera, Luisa Coutinho Santos, Cyril Gitiaux, Karolina Kaminska, Paul Kuentz, Naama Orenstein, Nicole Philip-Sarles, Morgane Plutino, Mathieu Quinodoz, Cristina Santos, Sabine Sigaudy, Mariana Soeiro e Sá, Efrat Sofrin, Ana Berta Sousa, Rui Sousa-Luis, Christel Thauvin-Robinet, Erwin L. van Dijk, Khaoula Zaafrane-Khachnaoui, Dinah Zur, Josseline Kaplan, Carlo Rivolta, Jean-Michel Rozet, Isabelle Perrault
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To e
Externí odkaz:
https://doaj.org/article/ea2180d6616342c0a12f6aeb64c93bba
Autor:
Vasily M. Smirnov, Matthieu P. Robert, Christel Condroyer, Julien Navarro, Aline Antonio, Jean-Michel Rozet, José-Alain Sahel, Isabelle Perrault, Isabelle Audo, Christina Zeitz
Publikováno v:
JAMA ophthalmology. 140(12)
ImportanceCongenital stationary night blindness (CSNB) is an inherited stationary retinal disorder that is clinically and genetically heterogeneous. To date, the genetic association between some cases with CSNB and an unusual complex clinical picture
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b04bc8cfb1e1c7f25fcfd538eea90a7
https://pubmed.ncbi.nlm.nih.gov/36264558
https://pubmed.ncbi.nlm.nih.gov/36264558
Autor:
Corinne Stoetzel, Séverine Bär, Johan-Owen De Craene, Sophie Scheidecker, Christelle Etard, Johana Chicher, Jennifer R. Reck, Isabelle Perrault, Véronique Geoffroy, Kirsley Chennen, Uwe Strähle, Philippe Hammann, Sylvie Friant, Hélène Dollfus
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
VPS15 is known as a VPS34-associated protein that functions in intracellular trafficking and autophagy. Here the authors identify a role for VPS15 in ciliopathy and ciliary phenotypes, and show that it interacts with GM130 and functions in IFT20-depe
Externí odkaz:
https://doaj.org/article/2f97f4e03fb6494dba321c86f0391b33
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 4, Iss C (2015)
Leber congenital amaurosis is a severe hereditary retinal dystrophy responsible for neonatal blindness. The most common disease-causing mutation (c.2991+1655A>G; 10–15%) creates a strong splice donor site that leads to insertion of a cryptic exon e
Externí odkaz:
https://doaj.org/article/779dc79240cf4246a7e9476f563372ff
Autor:
Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P M Cremers, Roser Gonzalez-Duarte, Robert K Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e51622 (2013)
Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration (RD), and the most common cause of incurable blindness diagnosed in children. It is occasionally the presenting symptom of multisystemic ciliopathies which diagnosi
Externí odkaz:
https://doaj.org/article/29dac93162e44f828a2d726fc0dc1501
Autor:
Nadia Bahi-Buisson, Christel Condroyer, Isabelle Perrault, Alexandra Mouallem-Beziere, Olivier Pelle, José-Alain Sahel, Josseline Kaplan, Laila Jeddawi, Isabelle Audo, Michel Polak, Jean-Louis Bacquet, Christina Zeitz, Nathalie Boddaert, Olivia Zambrowski, Basamat Almoallem, Jean-Michel Rozet, Jo Van Dorpe, Kristof Van Schil, Sabrina Mechaussier, Mara Cavallin, Alfredo Dueñas Rey, Elfride De Baere
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.859-871. ⟨10.1016/j.ajhg.2020.04.018⟩
AMERICAN JOURNAL OF HUMAN GENETICS
The American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.859-871. ⟨10.1016/j.ajhg.2020.04.018⟩
AMERICAN JOURNAL OF HUMAN GENETICS
The American Journal of Human Genetics
Congenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d0b819b12ffbaa650637b36d8600292
https://hal.archives-ouvertes.fr/hal-03490801
https://hal.archives-ouvertes.fr/hal-03490801
Autor:
Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 1, Iss C (2012)
Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for congenital or early-onset blindness. The most common disease-causing mutation (>10%) is located deep in intron 26 of the CEP290 gene (c.2991+1655A>G). It create
Externí odkaz:
https://doaj.org/article/4c6ac99f7bf04c2eb9a5d0e5fd83e9c1
Autor:
Josseline Kaplan, Tania Attié-Bitach, Christian P. Hamel, Christel Michel, Isabelle Perrault, Xavier Gérard, Sophie Thomas, Hélène Dollfus, Nicolas Goudin, Mickael Soussan, Iris Barny, Marlène Rio, Jean-Michel Rozet
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, ⟨10.1093/hmg/ddy179⟩
Human Molecular Genetics, Oxford University Press (OUP), 2018, ⟨10.1093/hmg/ddy179⟩
International audience; CEP290 mutations cause a spectrum of ciliopathies from Leber congenital amaurosis type 10 (LCA10) to embryo-lethal Meckel syndrome (MKS). Using panel-based molecular diagnosis testing for inherited retinal diseases, we identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da71fef27aa1310e103928d32d05f779
https://doi.org/10.1093/hmg/ddy179
https://doi.org/10.1093/hmg/ddy179
Autor:
Séverine Bär, Anne Boland, Hélène Blanché, Steven McGinn, Dominique Martin-Coignard, Katja Kloth, Hélène Dollfus, Elise Schaefer, Corinne Stoetzel, Anne-Sophie Leuvrey, Sophie Scheidecker, Günter Klaus, Jean Muller, Jean-François Deleuze, Eva Decker, Véronique Geoffroy, Charline Henry, Christoph J. Mache, Manuela Antin, Carsten Bergmann, Marion Delbarre, Ariane Kröll, Jean-Michel Rozet, Sylvie Friant, Isabelle Perrault, Sophie Saunier
Publikováno v:
Human Mutation. 39:983-992
Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases. Using
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61864f5e338219d07c1253ff0fc79fb3
https://doi.org/10.1002/humu.23539
https://doi.org/10.1002/humu.23539
Autor:
Sabrina, Mechaussier, Sandrine, Marlin, Josseline, Kaplan, Jean-Michel, Rozet, Isabelle, Perrault
Publikováno v:
Advances in experimental medicine and biology. 1185
The specific association of Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (LCA-like) with sensorineural hearing loss (SHL) is uncommon. Recently, we ascribed some of these distinctive associations to dominant and de novo mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::97db685d9ecf14df14728449cccd2a4c
https://pubmed.ncbi.nlm.nih.gov/31884617
https://pubmed.ncbi.nlm.nih.gov/31884617